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Introduction Investigation of the genetic profiles of thyroid cancers and their association with clinical behavior has made remarkable progress over the past years. Point mutations in BRAF are the representative somatic mutations for
Member of the German Cancer Consortium (DKTK), Germany
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-NENs ( Table 5 ). In GEP-NENs, the data so far available concern mainly PanNENs and, to a small extent, ileal NENs. Ileal NENs differ distinctly in their genetic profile from that of BP-NENs and PanNENs, and are therefore separately discussed (see subsequently
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literature, only one short report of primary squamous cell carcinoma was studied by whole genome sequencing by Chu and colleagues ( Chu et al . 2016 ). The case showed different genetic profiles from anaplastic thyroid carcinoma. It showed no BRAF mutation
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Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China
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comprehensive and integrated genomic characterization of NFACAs remained to be elucidated. The present study aims to explore the genetic profiling and molecular landscape of NFACAs with comprehensive pan-genomic analysis including whole-exome sequencing
Ipatimup – Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
ICBAS – Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto, Porto, Portugal
FMUP – Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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Ipatimup – Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
FMUP – Faculdade de Medicina da Universidade do Porto, Porto, Portugal
Department of Pathology, Centro Hospitalar e Universitário de São João, Porto, Portugal
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Ipatimup – Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
FMUP – Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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Ipatimup – Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
FMUP – Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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progression in β cells but not in Pdx1+ progenitor cells. Pi3k/Akt/mTOR pathway The Pi3k/Akt/mTOR pathway has been studied for decades in many solid tumors and recently received more attention in PanNEN genetic profiling. This complex pathway involves
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Mutations of the TP53 tumor suppressor gene are highly prevalent in thyroid anaplastic carcinomas (AC) but are also reported in some well-differentiated cancers and even in benign adenomas. The natural history of TP53-mutant adenomas and whether they may represent a precursor for well-differentiated cancer or AC is largely unknown. Similarly, the frequency of TP53 mutations in thyroid nodules found on routine molecular analysis of fine-needle aspiration (FNA) samples is not established. A database on 44,510 FNA samples from thyroid nodules with predominantly indeterminate cytology tested using ThyroSeq v3 was reviewed to identify TP53-mutant cases and analyze their genetic profile and available clinicopathological findings. Among 260 (0.6%) selected thyroid nodules, 36 had an isolated TP53 mutation and 224 carried a combination of TP53 with other genetic alterations. No significant difference was observed between these groups with respect to patient age, gender, nodule size, and spectrum of TP53 mutations. Histopathologically, 86% of the resected nodules with isolated TP53 mutations were benign (mostly adenomas), whereas 82% of nodules carrying TP53 mutations co-occurring with other alterations were cancers (P = 0.001), including de-differentiated AC. TP53-mutant benign tumors and well-differentiated cancers often had scattered single neoplastic cells with bizarre nuclei resembling those comprising AC. Our study demonstrates that a small but distinct proportion of thyroid nodules carry a TP53 mutation, either as a single genetic event or in combination with other alterations. While the latter is mostly cancers prone to dedifferentiation, there is at least a theoretical possibility that TP53-mutated adenomas may represent a precursor for such cancers, including AC.
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viruses, in particular Herpes viruses. Finally, the authors analyze the influence of our inherited genetic profile of detoxification systems and the susceptibility to thyroid tumors, raising the exciting possibility that we may, in the future, recognize
Northern Clinical School, Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia
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Department of Endocrinology, Royal North Shore Hospital, Northern Sydney Local Health District, St Leonards, New South Wales, Australia
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Northern Clinical School, Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia
The Kinghorn Cancer Centre, Garvan Institute of Medical Research, St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia
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handful of studies. The average repeat operation rate was 23% and the repeat RAI (I- 131 ) treatment rate was 39% ( Table 1 ). Results for c-PTC groups were not reported for comparison. Genetic profiles DSV has been shown to have a distinct genetic
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studied for tumour proliferation) were investigated for changes in tumour genetic profiles as assessed by microarray analysis. A preliminary account of this profiling has been reported elsewhere ( Miller & Larionov 2005 ). However, it was of interest to
Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium
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Cardiology Department, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium
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, deserve a more in-depth investigation ( Alexandrov et al . 2013 ). Hypermutated tumors have never been reported in PPGL, but are well described in other tumors, such as adrenocortical carcinomas ( Assie et al . 2014 ). Genetic profiling of PPGLs may
